Recombinant Human Transmembrane protein 216 (TMEM216)

Code CSB-CF023810HU
Size Pls inquire
Source in vitro E.coli expression system
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Product Details

Target Names
TMEM216
Uniprot No.
Alternative Names
TMEM216; HSPC244; Transmembrane protein 216
Species
Homo sapiens (Human)
Expression Region
1-145
Target Protein Sequence
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDV VMLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIM NGILLFFCGSELLLEVLTLAAFSRI
Protein Length
full length protein
Tag Info
The following tags are available.
N-terminal His-tagged
Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

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Target Background

Function
Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition.
Gene References into Functions
  1. study reports that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable ciliopathy, Joubert syndrome; expression of the genes is mediated by a conserved regulatory element in the noncoding intergenic region PMID: 22282472
  2. Data show that a single G218T mutation (R73L in the protein) was identified in all cases of Ashkenazi Jewish descent. PMID: 20512146
  3. a TMEM216 mutation may have a role in Joubert syndrome 2 (JBTS2) in Ashkenazi Jews PMID: 20036350
Involvement in disease
Joubert syndrome 2 (JBTS2); Meckel syndrome 2 (MKS2)
Subcellular Location
Membrane; Multi-pass membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
Database Links

HGNC: 25018

OMIM: 603194

KEGG: hsa:51259

STRING: 9606.ENSP00000440638

UniGene: Hs.26745

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